A novel nonsense mutation in CRYBB1 associated with autosomal dominant congenital cataract

Molecular Vision

Volumn 14, Issue , 2008, Pages 727-731

  Yang, Juhua ^a,b   Zhu, Yihua ^a   Gu, Feng ^b,c   He, Xiang ^b,c   Cao, Zongfu ^b,c   Li, Xuexi ^d   Tong, Yi ^a   Ma, Xu ^b,c  

^a FUJIAN MEDICAL UNIVERSITY   (China)

^b NATIONAL RESEARCH INSTITUTE FOR FAMILY PLANNING   (China)

^c PEKING UNION MEDICAL COLLEGE   (China)

^d No 180 Hospital of Chinese PLA   (China)

Author keywords

[No Author keywords available]

Indexed keywords

AMINO ACID; BETA CRYSTALLIN; BETAA4 CRYSTALLIN; BETAB1 CRYSTALLIN; BETAB2 CRYSTALLIN; BETAB3 CRYSTALLIN; CRYSTALLIN; CYSTEINE; GENOMIC DNA; THREONINE;

ADULT; AGED; AMINO ACID SUBSTITUTION; ARTICLE; AUTOSOMAL DOMINANT DISORDER; CHILD; CHINESE; CHROMOSOME 22; CLINICAL ARTICLE; CLINICAL EXAMINATION; CONGENITAL CATARACT; CONTROLLED STUDY; DNA EXTRACTION; DNA FLANKING REGION; FAMILY STUDY; GENE CLUSTER; GENE IDENTIFICATION; GENE SEGREGATION; GENE SEQUENCE; GENETIC CONSERVATION; GENOTYPE; HETEROZYGOSITY; HUMAN; INTRON; LEUKOCYTE; LINKAGE ANALYSIS; MARKER GENE; MICROSATELLITE MARKER; NONSENSE MUTATION; NUCLEOTIDE SEQUENCE; PEDIGREE ANALYSIS; PHENOTYPE; PHYLOGENY; PREDICTION; PRIORITY JOURNAL; RESTRICTION FRAGMENT LENGTH POLYMORPHISM; SCORING SYSTEM; SINGLE NUCLEOTIDE POLYMORPHISM; STOP CODON;

AMINO ACID SEQUENCE; BASE SEQUENCE; BETA-CRYSTALLIN B CHAIN; CATARACT; CODON, NONSENSE; DNA MUTATIONAL ANALYSIS; FEMALE; GENES, DOMINANT; GENETIC PREDISPOSITION TO DISEASE; HAPLOTYPES; HUMANS; LOD SCORE; MALE; MOLECULAR SEQUENCE DATA; PEDIGREE;

EID: 43149102909     PISSN: None     EISSN: 10900535     Source Type: Journal    
DOI: None     Document Type: Article

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